ClinVar Miner

List of variants reported as pathogenic for parietal foramina by OMIM

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_002449.5(MSX2):c.515G>A (p.Arg172His) rs104893896 0.00001
NC_000005.10:g.174694600_174931940delinsTATAATATGTGTGTATATAATATATATATTACAATATA
NM_002449.5(MSX2):c.265_266delinsTA (p.Ala89Ter) rs121912971
NM_002449.5(MSX2):c.345del (p.Ala114_Trp115insTer) rs121912972
NM_002449.5(MSX2):c.475_480del (p.Arg159_Lys160del) rs2113498725
NM_002449.5(MSX2):c.548_555del (p.Glu183fs) rs1561643060
NM_021926.4(ALX4):c.385_394del (p.Cys129fs) rs387906325
NM_021926.4(ALX4):c.418C>T (p.Gln140Ter) rs104894191
NM_021926.4(ALX4):c.504del (p.Asp169fs) rs587776614
NM_021926.4(ALX4):c.620C>A (p.Ser207Ter) rs104894197
NM_021926.4(ALX4):c.646C>G (p.Arg216Gly) rs587777700
NM_021926.4(ALX4):c.653G>A (p.Arg218Gln) rs104894193
NM_021926.4(ALX4):c.736C>T (p.Gln246Ter) rs104894192
NM_021926.4(ALX4):c.815G>C (p.Arg272Pro) rs104894196
NM_021926.4(ALX4):c.976_985delinsCTAAGATCTCAACAGAGATGGCAACT (p.Asp326fs) rs587777702

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